Huntington’s Disease presenting as sporadic cerebellar ataxia
Objective: To describe a unique case of a woman who presented as a progressive cerebellar ataxia, with no family history of neurological diseases, that after…Alignment of objective markers of speech with listener based judgements and disease severity in Friedreich ataxia
Objective: To identify a subset of acoustic markers of speech that objectively describe listener perceptions, disease severity and speech related quality of life in Friedreich…Study of eye movements as a tool in the diagnosis hereditary ataxias
Objective: To study ocular movements (ocular pursuit, nystagmus and saccades) in the most frequent ataxias (SCA2, SCA3 and Friedreich's ataxia), to find out which variables…Research on the modifier gene of Hereditary spinocerebellar ataxia type 2
Objective: To investigate the influence of CAG trinucleotides repeat of some (CAG)n-containing gene and some gene polymorphisms in AO of SCA2, and analyse the difference…Onset symptoms and time to diagnosis in Friedreich´s Ataxia
Objective: In the present study, we aimed at analyzing onset symptoms in Friedreich Ataxia on the basis of natural history data from the EFACTS registry…Inpatient vs outpatient workup of patients with ataxia and suspected paraneoplastic cerebellar degeneration: Does work-up location matter?
Objective: To assess the outcomes of patients with ataxia evaluated for paraneoplastic syndrome primarily in an outpatient or inpatient setting. Background: Although paraneoplastic ataxias are…Opsoclonus-myoclonus-ataxia syndrome associated to rubella
Objective: Reporting exceptional etiology of OMS and remembering spectrum of neurological manifestations of rubella. Background: Opsoclonus-myoclonus-ataxia (OMS) is a rare child clinical paraneoplastic syndrome. OMS…The First Chinese Case of Fragile X-associated Tremor/ Ataxia Syndrome :an underestimated disease in China
Objective: To report the first case of FXTAS from mainland of China and review the literature to find out why is FXTAS an underestimated disease in…Usefulness of Sway Area for Assessing Balance and Stability in People with Sporadic Adult Onset Cerebellar Ataxia
Objective: To assess usefulness of sway area using wearable devices by (1) comparison of variables with another neurodegenerative diseases (2) assessing correlation with the Scale…Commonalities of prodromal non-motor symptoms between movement disorders
Objective: This study reviewed and compared evidence of nonmotor symptoms in prodromal phases in movement disorders including Parkinson disease, Atypical Parkinsonism (MSA, DLB, PSP), Huntington…
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